Linked Data
ClinVar Variation Id:
4713
ClinVar RCV Id:
RCV000004978
dbSNP Id:
rs121908341
gnomAD v2:
22-50506917-G-A
gnomAD v3:
22-50068488-G-A
gnomAD v4:
22-50068488-G-A
PubMed:
PMID:11254442
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50068488G>A , CM000684.2:g.50068488G>A | GRCh38 |
| NC_000022.10:g.50506917G>A , CM000684.1:g.50506917G>A | GRCh37 |
| NC_000022.9:g.48849044G>A | NCBI36 |
| NG_009162.1:g.22442C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311597.10:c.839C>T MANE Select | ENSP00000310375.6:p.Ser280Leu | |
| ENST00000311597.9:c.839C>T | ENSP00000310375.5:p.Ser280Leu | |
| ENST00000395876.6:c.839C>T | ENSP00000379216.2:p.Ser280Leu | |
| ENST00000483836.1:n.196C>T | ||
| NM_015166.3:c.839C>T | NP_055981.1:p.Ser280Leu | |
| NM_139202.2:c.839C>T | NP_631941.1:p.Ser280Leu | |
| XM_011530678.1:c.839C>T | XP_011528980.1:p.Ser280Leu | |
| XR_430476.2:n.1234C>T | ||
| XM_011530678.2:c.839C>T | XP_011528980.1:p.Ser280Leu | |
| XM_017028671.1:c.839C>T | XP_016884160.1:p.Ser280Leu | |
| XR_001755180.2:n.1344C>T | ||
| XR_001755181.2:n.1112C>T | ||
| NM_001376472.1:c.839C>T | NP_001363401.1:p.Ser280Leu | |
| NM_001376473.1:c.839C>T | NP_001363402.1:p.Ser280Leu | |
| NM_001376474.1:c.839C>T | NP_001363403.1:p.Ser280Leu | |
| NM_001376475.1:c.839C>T | NP_001363404.1:p.Ser280Leu | |
| NM_001376476.1:c.839C>T | NP_001363405.1:p.Ser280Leu | |
| NM_001376477.1:c.839C>T | NP_001363406.1:p.Ser280Leu | |
| NM_001376478.1:c.839C>T | NP_001363407.1:p.Ser280Leu | |
| NM_001376479.1:c.782C>T | NP_001363408.1:p.Ser261Leu | |
| NM_001376480.1:c.749C>T | NP_001363409.1:p.Ser250Leu | |
| NM_001376481.1:c.737C>T | NP_001363410.1:p.Ser246Leu | |
| NM_001376482.1:c.683C>T | NP_001363411.1:p.Ser228Leu | |
| NM_001376483.1:c.683C>T | NP_001363412.1:p.Ser228Leu | |
| NM_001376484.1:c.602C>T | NP_001363413.1:p.Ser201Leu | |
| NM_015166.4:c.839C>T MANE Select | NP_055981.1:p.Ser280Leu | |
| NM_139202.3:c.839C>T | NP_631941.1:p.Ser280Leu | |
| NR_164811.1:n.1186C>T | ||
| NR_164812.1:n.970C>T | ||
| NR_164813.1:n.1363C>T |